Clinical practice guidelines for rare diseases: the orphanet database.

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This article explains that Orphanet is a trusted, free resource that collects and quality‑checks medical care guidelines for rare conditions—so families affected by 16p11.2 syndromes can use Orphanet to find reliable, up‑to‑date recommendations to share with doctors, plan care, and advocate confidently even when local providers have limited experience with rare genetic diagnoses.